Hreinn Stefansson

Summary

Affiliation: deCODE Genetics
Country: Iceland

Publications

  1. ncbi request reprint Endometriosis is not associated with or linked to the GALT gene
    H Stefansson
    deCODE Genetics, Lynghals 1, 110 Reykjavik, Iceland
    Fertil Steril 76:1019-22. 2001
  2. ncbi request reprint Genetic factors contribute to the risk of developing endometriosis
    H Stefansson
    deCODE Genetics, Lynghals 1, Reykjavik, IS 110, Iceland
    Hum Reprod 17:555-9. 2002
  3. pmc Association of neuregulin 1 with schizophrenia confirmed in a Scottish population
    Hreinn Stefansson
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 72:83-7. 2003
  4. ncbi request reprint Neuregulin 1 and schizophrenia
    Hreinn Stefansson
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Ann Med 36:62-71. 2004
  5. doi request reprint Detection of sharing by descent, long-range phasing and haplotype imputation
    Augustine Kong
    deCODE Genetics, Reykjavik, Iceland
    Nat Genet 40:1068-75. 2008
  6. doi request reprint The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
    Anna Helgadottir
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nat Genet 40:217-24. 2008
  7. pmc Common variants at VRK2 and TCF4 conferring risk of schizophrenia
    Stacy Steinberg
    deCODE Genetics, IS 101 Reykjavik, Iceland
    Hum Mol Genet 20:4076-81. 2011
  8. doi request reprint A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration
    Hannes Helgason
    1 deCODE Genetics Amgen, Reykjavik, Iceland 2 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland 3
    Nat Genet 45:1371-4. 2013
  9. pmc Common variants conferring risk of schizophrenia
    Hreinn Stefansson
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nature 460:744-7. 2009
  10. doi request reprint Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
    Daniel F Gudbjartsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 41:342-7. 2009

Detail Information

Publications37

  1. ncbi request reprint Endometriosis is not associated with or linked to the GALT gene
    H Stefansson
    deCODE Genetics, Lynghals 1, 110 Reykjavik, Iceland
    Fertil Steril 76:1019-22. 2001
    ....
  2. ncbi request reprint Genetic factors contribute to the risk of developing endometriosis
    H Stefansson
    deCODE Genetics, Lynghals 1, Reykjavik, IS 110, Iceland
    Hum Reprod 17:555-9. 2002
    ..Endometriosis is known to cluster within nuclear families. The extent of familial clustering can be evaluated in Iceland with its large population-based genealogical database...
  3. pmc Association of neuregulin 1 with schizophrenia confirmed in a Scottish population
    Hreinn Stefansson
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 72:83-7. 2003
    ..000064 to .0021 for the allele contributing to the at-risk haplotype. This direct replication of haplotype association in a second population further implicates NRG1 as a factor that contributes to the etiology of schizophrenia...
  4. ncbi request reprint Neuregulin 1 and schizophrenia
    Hreinn Stefansson
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Ann Med 36:62-71. 2004
    ....
  5. doi request reprint Detection of sharing by descent, long-range phasing and haplotype imputation
    Augustine Kong
    deCODE Genetics, Reykjavik, Iceland
    Nat Genet 40:1068-75. 2008
    ..A further extension of the method allows us to impute long haplotypes for individuals who are not genotyped...
  6. doi request reprint The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
    Anna Helgadottir
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nat Genet 40:217-24. 2008
    ..These findings extend our insight into the role of the sequence variant tagged by rs10757278-G and show that it is not confined to atherosclerotic diseases...
  7. pmc Common variants at VRK2 and TCF4 conferring risk of schizophrenia
    Stacy Steinberg
    deCODE Genetics, IS 101 Reykjavik, Iceland
    Hum Mol Genet 20:4076-81. 2011
    ..09, P = 1.9 × 10(-9)] and rs4309482[A], between coiled-coiled domain containing 68 (CCDC68) and TCF4, about 400 kb from the previously described risk allele, but not accounted for by its association (OR = 1.09, P = 7.8 × 10(-9))...
  8. doi request reprint A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration
    Hannes Helgason
    1 deCODE Genetics Amgen, Reykjavik, Iceland 2 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland 3
    Nat Genet 45:1371-4. 2013
    ..Lys155Gln substitution reduces C3b binding to complement factor H, potentially creating resistance to inhibition by this factor. This resistance to inhibition in turn is predicted to result in enhanced complement activation...
  9. pmc Common variants conferring risk of schizophrenia
    Hreinn Stefansson
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nature 460:744-7. 2009
    ..2. Our findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition...
  10. doi request reprint Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
    Daniel F Gudbjartsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 41:342-7. 2009
    ..2 x 10(-5) and 2.4 x 10(-4), respectively). We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls)...
  11. pmc Large recurrent microdeletions associated with schizophrenia
    Hreinn Stefansson
    CNS Division, deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nature 455:232-6. 2008
    ..CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia...
  12. ncbi request reprint A genetic risk factor for periodic limb movements in sleep
    Hreinn Stefansson
    deCODE Genetics, Reykjavik, Iceland
    N Engl J Med 357:639-47. 2007
    ..It is a major cause of sleep disruption. Periodic limb movements in sleep are detectable in most patients with RLS and represent an objective physiological metric...
  13. doi request reprint Evaluating differences in linkage disequilibrium between populations
    Birgir Hrafnkelsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Ann Hum Genet 74:233-47. 2010
    ....
  14. pmc Variant in the sequence of the LINGO1 gene confers risk of essential tremor
    Hreinn Stefansson
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nat Genet 41:277-9. 2009
    ..Increased axon integrity observed in Lingo1 mouse [corrected] knockout models highlights the potential role of LINGO1 in the pathophysiology of ET [corrected]..
  15. doi request reprint Addictions and their familiality in Iceland
    Thorarinn Tyrfingsson
    SAA Treatment Center, Reykjavik, Iceland
    Ann N Y Acad Sci 1187:208-17. 2010
    ..The magnitude of risk in psychostimulant dependence is particularly striking. These findings emphasize the role of genetics in the etiology of addiction and highlight the importance of substance-specific effects...
  16. pmc Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
    Gudmar Thorleifsson
    deCODE Genetics Inc, Reykjavik, Iceland
    Nat Genet 42:906-9. 2010
    ..42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG...
  17. pmc A rare variant in MYH6 is associated with high risk of sick sinus syndrome
    Hilma Holm
    deCODE Genetics, Sturlugata 8, Reykjavik, Iceland
    Nat Genet 43:316-20. 2011
    ..53 and P = 1.5 × 10⁻²⁹. We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant...
  18. doi request reprint A variant associated with nicotine dependence, lung cancer and peripheral arterial disease
    Thorgeir E Thorgeirsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Nature 452:638-42. 2008
    ..The findings provide a case study of a gene-environment interaction, highlighting the role of nicotine addiction in the pathology of other serious diseases...
  19. doi request reprint Genetics of gene expression and its effect on disease
    Valur Emilsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Nature 452:423-8. 2008
    ..A core network module in humans and mice was identified that is enriched for genes involved in the inflammatory and immune response and has been found to be causally associated to obesity-related traits...
  20. ncbi request reprint Support for involvement of the AHI1 locus in schizophrenia
    Andres Ingason
    deCODE Genetics, Reykjavik, Iceland
    Eur J Hum Genet 15:988-91. 2007
    ..Thus, our results are in general agreement with the previous report, with the strongest association signal observed in a region upstream of the AHI1 gene...
  21. pmc Variant of TREM2 associated with the risk of Alzheimer's disease
    Thorlakur Jonsson
    deCODE Genetics, Reykjavik, Iceland
    N Engl J Med 368:107-16. 2013
    ..Few rare variants affecting the risk of late-onset Alzheimer's disease have been found...
  22. ncbi request reprint A susceptibility gene for late-onset idiopathic Parkinson's disease
    Andrew A Hicks
    deCODE Genetics, Sturlogötu 8, Reykjavik 101, Iceland
    Ann Neurol 52:549-55. 2002
    ..Identification of the susceptibility gene in this region may pave the way for a better understanding of the disease process, which, in turn, may lead to improved diagnostics and therapeutics...
  23. ncbi request reprint Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
    Struan F A Grant
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 38:320-3. 2006
    ..It is thought to act through regulation of proglucagon gene expression in enteroendocrine cells via the Wnt signaling pathway...
  24. doi request reprint Many sequence variants affecting diversity of adult human height
    Daniel F Gudbjartsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Nat Genet 40:609-15. 2008
    ..Association to three previously reported loci are replicated in our analyses, and the strongest association was with SNPs in the ZBTB38 gene...
  25. pmc Neuregulin 1 and susceptibility to schizophrenia
    Hreinn Stefansson
    deCODE Genetics, Reykjavik, Iceland
    Am J Hum Genet 71:877-92. 2002
    ..We also demonstrate that the behavioral phenotypes of the NRG1 hypomorphs are partially reversible with clozapine, an atypical antipsychotic drug used to treat schizophrenia...
  26. ncbi request reprint Neuregulin1 (NRG1) signaling through Fyn modulates NMDA receptor phosphorylation: differential synaptic function in NRG1+/- knock-outs compared with wild-type mice
    Maria Bjarnadottir
    deCODE Genetics, 101 Reykjavik, Iceland
    J Neurosci 27:4519-29. 2007
    ..Attenuated NRG1 signaling through ErbB4 may contribute to the pathophysiology of schizophrenia through dysfunction of NMDAR modulation. Thus, our data support the glutamate hypothesis of schizophrenia...
  27. ncbi request reprint A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)
    Ragnheidur Fossdal
    deCODE Genetics, IS 101 Reykjavik, Iceland
    Hum Mol Genet 13:975-81. 2004
    ..Therefore, we conclude that the mutation in the TEAD1 gene is the cause of Sveinsson's chorioretinal atrophy...
  28. doi request reprint A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
    Thorlakur Jonsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nature 488:96-9. 2012
    ..Furthermore, as the A673T allele also protects against cognitive decline in the elderly without Alzheimer's disease, the two may be mediated through the same or similar mechanisms...
  29. doi request reprint Identification of low-frequency variants associated with gout and serum uric acid levels
    Patrick Sulem
    deCODE Genetics, Reykjavik, Iceland
    Nat Genet 43:1127-30. 2011
    ..This variant is close to a common variant previously associated with serum uric acid levels. This work illustrates how whole-genome sequencing data allow the detection of associations between low-frequency variants and complex traits...
  30. ncbi request reprint Multiple novel transcription initiation sites for NRG1
    Valgerdur Steinthorsdottir
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Gene 342:97-105. 2004
    ....
  31. ncbi request reprint A common inversion under selection in Europeans
    Hreinn Stefansson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 37:129-37. 2005
    ..Here we show that the H2 lineage is undergoing positive selection in the Icelandic population, such that carrier females have more children and have higher recombination rates than noncarriers...
  32. doi request reprint Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm
    Solveig Gretarsdottir
    Population Genomics, deCODE Genetics, Reykjavik, Iceland
    Nat Genet 42:692-7. 2010
    ..Rs7025486 is located within DAB2IP, which encodes an inhibitor of cell growth and survival...
  33. doi request reprint CNVs conferring risk of autism or schizophrenia affect cognition in controls
    Hreinn Stefansson
    1 deCODE Genetics Amgen, Sturlugata 8, IS 101 Reykjavik, Iceland 2
    Nature 505:361-6. 2014
    ..The 15q11.2(BP1-BP2) deletion affects brain structure in a pattern consistent with both that observed during first-episode psychosis in schizophrenia and that of structural correlates in dyslexia. ..
  34. pmc CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD
    Kristinn P Magnusson
    deCODE Genetics, Reykjavik, Iceland
    PLoS Med 3:e5. 2006
    ..However, its impact on soft drusen, GA, or neovascular AMD--or the relationship between them--is unclear...
  35. doi request reprint Sequence variants in the RNF212 gene associate with genome-wide recombination rate
    Augustine Kong
    deCODE Genetics Inc, 101 Reykjavik, Iceland
    Science 319:1398-401. 2008
    ..Consequently, if the frequency of the haplotype changes, the average recombination rate will increase for one sex and decrease for the other, but the sex-averaged recombination rate of the population can stay relatively constant...
  36. ncbi request reprint Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
    Gudmar Thorleifsson
    deCODE Genetics Inc, 101 Reykjavik, Iceland
    Science 317:1397-400. 2007
    ..The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG...
  37. doi request reprint Association between microdeletion and microduplication at 16p11.2 and autism
    Lauren A Weiss
    Autism Consortium, Boston, USA
    N Engl J Med 358:667-75. 2008
    ..Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role...